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Details for MEFV:p.Val726Ala

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
3293310	3243310

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Val726Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002167	0.0	0.0002313	0.03979	0.0	0.0	0.0009318	0.004399	9.799e-05

ESP
AA	EA
0.0002276	0.002674

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.598378	Disease causing

DBSNP ID

1 combination linked to MEFV:p.Val726Ala

1 disease linked to MEFV:p.Val726Ala

Familial Mediterranean fever

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